• It is a hereditary metabolic disease
• Phenylalanine, a protein building block in this disease, cannot be metabolized, accumulates in the blood and causes irreversible brain damage.
• If it is not identified and treated early, the result is severe mental retardation.
• Turkey is one of the countries where this disease is most common.
• 4 out of every 100 people in Turkey are FKU carriers.
• Mental retardation can be prevented by early diagnosis of the disease and proper diet therapy.
Congenital Hypothyroidism
• The most common endocrinological problem in the neonatal period
• Characterized by hormonal insufficiency of the thyroid gland
• Turkey is one of the countries where this disease is also most common, an endemic iodine-deficient region
• Almost all babies initially have no signs and symptoms
• If an early diagnosis is not made, permanent mental retardation is inevitable.
• The earlier the disease is diagnosed and treatment is started, the more effective the treatment can provide.
Biotinidase Deficiency
• Biotin is one of the B vitamins.
• It provides energy and is necessary for growth.
• Biotin cannot be used by the body in those with biotinidase deficiency.
• If biotinidase deficiency is not treated, November baby may develop problems such as muscle weakness, hearing loss, vision (eye) problems, hair loss, skin rashes, remittance (convulsive seizure), developmental delay.
Cystic Fibrosis
• Cystic Fibrosis is a genetic disease that mainly affects the glands, therefore also the lungs and digestive system.
• Patients with cystic fibrosis who are diagnosed early can live healthier and longer with proper diet, medications, and physiotherapy.
• one in 25 people has this disease.
• In a limited number of studies conducted in our country, the incidence is stated to be 1/3000.
